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Common genetic variations in Patched1 (PTCH1) gene and risk of hirschsprung disease in the Han Chine...

Common genetic variations in Patched1 (PTCH1) gene and risk of hirschsprung disease in the Han Chine...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1434423568

Common genetic variations in Patched1 (PTCH1) gene and risk of hirschsprung disease in the Han Chinese population

About this item

Full title

Common genetic variations in Patched1 (PTCH1) gene and risk of hirschsprung disease in the Han Chinese population

Publisher

United States: Public Library of Science

Journal title

PloS one, 2013-09, Vol.8 (9), p.e75407-e75407

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

Hirschsprung disease (HSCR) is the most frequent genetic cause of congenital intestinal obstruction with an incidence of 1:5000 live births. In a pathway-based epistasis analysis of data generated by genome-wide association study on HSCR, specific genotype of Patched 1 (PTCH1) has been linked to an increased risk for HSCR. The aim of the present st...

Alternative Titles

Full title

Common genetic variations in Patched1 (PTCH1) gene and risk of hirschsprung disease in the Han Chinese population

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1434423568

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1434423568

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0075407

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